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Korean Journal of Obstetrics & Gynecology 2004;47(8):1545-1551.
Published online August 1, 2004.
Clinical Review of the Etiologic Factors in Patients with Aambiguous Genitalia.
Hye Eun Kwon, Gyun Ho Jeon, Seung Wha Hong, Sung Hoon Kim, Hee Dong Chae, Chung Hoon Kim, Byung Moon Kang, Kun Suk Kim, Han Wook Yoo
1Department of Obstetrics and Gynecology, College of Medicine, University of Ulsan, Asan Medical Center, Seoul, Korea.
2Department of Urology, College of Medicine, University of Ulsan, Asan Medical Center, Seoul, Korea.
3Department of Pediatrics, College of Medicine, University of Ulsan, Asan Medical Center, Seoul, Korea.
To review and evaluate the etiologic factors in patients with ambiguous genitalia METHODS: We reviewed the medical records of the patients in whom ambiguous genitalia was identified in Asan Medical Center from Jan, 1989 to Dec, 2002. Patients with isolated cryptorchidism, isolated hypospadias, or congenital fatal anomalies involving multiple organs were excluded in our series. RESULTS: A total of 58 cases were evaluated. The most common cause was congenital adrenal hyperplasia (CAH) (18 cases, 31.0%), followed by partial androgen insensitivity syndrome (AIS) (16 cases, 27.6%), true hermaphroditism (9 cases, 15.5%), and mixed gonadal dysgenesis (5 cases, 8.6%). Morphologic abnormalities observed in patients with ambiguous genitalia were hypospadias (52.5%), clitoromegaly (47.5%), palpable gonads (45.8%), bifid scrotum (23.7%), penoscrotal transposition (22%), cryptorchidism (18.6%), vaginal wall abnormality (10.2%), and M llerian remnant (3.4%). By karyotyping, 46XX, 46XY, and Y containing mosaicism were found in 24, 22, and 9 patients, respectively. All of the 18 patients with CAH were found to have 21-hydroxylase deficiency and all cases of androgen insensitivity syndrome were partial type. CONCLUSION: These findings suggest that etiologic background might be different in patients with ambiguous genitalia in Korea.
Key Words: Ambiguous genitalia, Pseudohermaphroditism, True hermaphroditism

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